81例Klinefelter综合征的临床与细胞遗传学分析

Analysis of clinic and cytogenetics on 81 Klinefelter's syndrome cases

目的：对734例男科病人作细胞遗传学检查，得出Klinefelter综合征的发病率，发现一些少见的体征及Klinefelter综合征不同类型染色体核型。方法：外周血淋巴细胞培养和镜下核型分析．常规的临床查体。结果：发现Klinefelter综合征81例，他们都有睾丸小、无精子、第二性征发育不良的Klinefelter综合征的“经典”体征，也发现个别病例伴有唇腭裂体征．激素水平与睾丸活检与文献资料相符。结论：男性不育症的细胞遗传学检查必不可少，细胞学确诊的Klinefelter综合征是临床结论性诊断依据，可免除病人为生育四处求医治疗和睾丸活检之苦。

Objectives:The morbidity of Klinefelter' s syndrome was gained in cytogenetics examnation of 734 male infertility. The few clinical sign and karyotype of different type was found. Methods: The peripheral blood lymphocytic culture was used, the analysis of karyotype was made by the microscopic examination and the body examination was foutinely carried out. Results 81 cases of Klinefelter's syndrome was found, in which 8 cases belongs to the special karyotype. They was possessed the clinical signs of ' classical' Klinefelter' s syndrome which apparent small testis,azoospermia and secondary sex characters hypoplasia. In isolated cases the signs of Klinefelter's syndrome was accompanied with lip,palate and so on. The result of hormonal level and testis biopsy was consisted with the literature. Conclusions:The cytogenetic examination of male infertility was indispensable.The diagnosis of Klinefelter's syndrome has been made,the conclusion diagnosis was passed to avoid testis hiopsy.